Literature DB >> 416928

Recessive spondylocostal dysostosis: two new cases.

M C Silengo, S Cavallaro, P Franceschini.   

Abstract

Two sisters with spondylocastal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease.

Entities:  

Mesh：

Year:  1978        PMID： 416928     DOI： 10.1111/j.1399-0004.1978.tb01183.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Spondylocostal dysostosis.

Authors:  I D Young; J R Moore
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

2.  A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Authors:  P D Turnpenny; M P Bulman; T M Frayling; T K Abu-Nasra; C Garrett; A T Hattersley; S Ellard
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

3.  Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Authors:  P D Turnpenny; N Whittock; J Duncan; S Dunwoodie; K Kusumi; S Ellard
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

4.  Congenital spinal deformity in a three generation family.

Authors:  I K Temple; T G Thomas; M Baraitser
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

5.  Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

Authors:  P D Turnpenny; R J Thwaites; F N Boulos
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.